Variant report

Variant	nsv441740
Chromosome Location	chr1:225659217-225684196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:66)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:225665630..225667137-chr1:226308801..226311216,2	K562	blood:
2	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
3	chr1:225658101..225659665-chr1:226308804..226311081,2	K562	blood:
4	chr1:225660989..225663497-chr1:226070471..226072090,2	K562	blood:
5	chr1:225668021..225670369-chr1:226148124..226150238,2	MCF-7	breast:
6	chr1:225662326..225663674-chr1:226098265..226099949,10	MCF-7	breast:
7	chr1:225662375..225662892-chr1:226154381..226155127,2	K562	blood:
8	chr1:225660270..225662835-chr1:225667398..225670221,2	MCF-7	breast:
9	chr1:225660270..225662835-chr1:225667398..225670221,2	MCF-7	breast:
10	chr1:225662353..225663278-chr1:226308878..226309804,6	K562	blood:
11	chr1:225668607..225669253-chr1:226163366..226164317,2	MCF-7	breast:
12	chr1:225662644..225663293-chr1:226308870..226309402,2	MCF-7	breast:
13	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:
14	chr1:225657432..225660259-chr1:225660834..225662970,2	K562	blood:
15	chr1:225674187..225676643-chr1:225684973..225688505,3	K562	blood:
16	chr1:225662674..225663260-chr1:226156064..226156695,2	MCF-7	breast:
17	chr1:225664480..225667161-chr1:225903900..225905865,2	K562	blood:
18	chr1:225662357..225662998-chr1:225754575..225755137,2	K562	blood:
19	chr1:225652545..225654089-chr1:225665937..225667726,2	K562	blood:
20	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
21	chr1:225662381..225663188-chr1:226098805..226099681,6	MCF-7	breast:
22	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
23	chr1:225662537..225663284-chr1:225964788..225965783,3	K562	blood:
24	chr1:225662349..225663258-chr1:225740687..225742425,6	K562	blood:
25	chr1:225682780..225684982-chr1:225687181..225690046,2	MCF-7	breast:
26	chr1:225662701..225663242-chr1:226175273..226175841,2	MCF-7	breast:
27	chr1:225674280..225677221-chr1:225997663..226000316,2	MCF-7	breast:
28	chr1:225662416..225663048-chr1:226150174..226150762,3	MCF-7	breast:
29	chr1:225662700..225663253-chr1:226040369..226040954,2	MCF-7	breast:
30	chr1:225662607..225663273-chr1:225994915..225995627,2	K562	blood:
31	chr1:225662449..225663280-chr1:226160613..226161497,3	K562	blood:
32	chr1:225662383..225663164-chr1:225958651..225959497,2	MCF-7	breast:
33	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
34	chr1:225625683..225626268-chr1:225662425..225662953,2	MCF-7	breast:
35	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
36	chr1:225662577..225663310-chr1:226384412..226385341,3	K562	blood:
37	chr1:225662471..225663286-chr1:225959783..225960696,4	MCF-7	breast:
38	chr1:225662368..225663228-chr1:226027050..226027785,2	K562	blood:
39	chr1:225666757..225668833-chr1:226110294..226111958,2	MCF-7	breast:
40	chr1:225662424..225663252-chr1:226071421..226072025,2	MCF-7	breast:
41	chr1:225668364..225669220-chr1:226309046..226309674,2	MCF-7	breast:
42	chr1:225615551..225616246-chr1:225662296..225663262,2	MCF-7	breast:
43	chr1:225664099..225665880-chr1:226167899..226170601,2	K562	blood:
44	chr1:225662561..225663268-chr1:225685078..225685619,2	K562	blood:
45	chr1:225668734..225669518-chr1:226308467..226309148,2	K562	blood:
46	chr1:225662398..225663268-chr1:226033119..226034385,8	K562	blood:
47	chr1:225662226..225663837-chr1:226162713..226165257,2	K562	blood:
48	chr1:225602154..225602733-chr1:225662665..225663257,2	K562	blood:
49	chr1:225662588..225663159-chr1:225960250..225960988,2	MCF-7	breast:
50	chr1:225662312..225663277-chr1:226032721..226034082,11	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092811.1-1	chr1:225659565-225660157	XLOC_000585
2	lnc-AC092811.1-1	chr1:225657547-225659222	XLOC_000585

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ENAH	hsa-miR-181a-5p	chr1:225682671-225682665
2	ENAH	hsa-miR-124-3p	chr1:225683220-225683214
3	ENAH	hsa-miR-124-3p	chr1:225674888-225674882
4	ENAH	hsa-miR-181a-5p	chr1:225682791-225682784

Variant related genes	Relation type
ENSG00000143742	chromatin interactions
ENSG00000242861	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000154380	chromatin interactions
ENSG00000234476	chromatin interactions
ENSG00000143815	chromatin interactions
ENSG00000143819	chromatin interactions
ENSG00000243709	chromatin interactions
ARL8B	miRNA target sites

Extended variants
information (count: 996 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78987211	chr1:225659252-225659253	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558928053	chr1:225659290-225659291	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373642524	chr1:225659297-225659298	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552461642	chr1:225659344-225659345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186983778	chr1:225659360-225659361	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367739146	chr1:225659361-225659362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563211960	chr1:225659370-225659371	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530764720	chr1:225659381-225659382	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552068881	chr1:225659421-225659422	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564409880	chr1:225659435-225659436	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191260281	chr1:225659454-225659455	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138127525	chr1:225659462-225659463	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371558142	chr1:225659467-225659468	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12044472	chr1:225659468-225659469	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536217175	chr1:225659479-225659480	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539865143	chr1:225659482-225659483	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570029186	chr1:225659594-225659595	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs537691718	chr1:225659602-225659603	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558882497	chr1:225659610-225659611	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576978350	chr1:225659631-225659632	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
21	rs534996518	chr1:225659675-225659676	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553219295	chr1:225659679-225659680	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
23	rs6426076	chr1:225659704-225659705	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs541442223	chr1:225659711-225659712	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
25	rs557055676	chr1:225659735-225659736	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575238102	chr1:225659737-225659738	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
27	rs528865658	chr1:225659791-225659792	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
28	rs372329007	chr1:225659799-225659800	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
29	rs6426077	chr1:225659815-225659816	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs528253227	chr1:225659831-225659832	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs540548069	chr1:225659852-225659853	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs367900173	chr1:225659866-225659867	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs561934891	chr1:225659901-225659902	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs570679985	chr1:225659964-225659965	Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs548273841	chr1:225660003-225660004	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs10753406	chr1:225660014-225660015	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs376058187	chr1:225660057-225660058	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs12723554	chr1:225660059-225660060	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs149957327	chr1:225660066-225660067	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs112959467	chr1:225660067-225660068	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12737942	chr1:225660069-225660070	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs57839967	chr1:225660081-225660082	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs202193523	chr1:225660086-225660087	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs10564075	chr1:225660093-225660094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs377001938	chr1:225660094-225660095	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs528411166	chr1:225660100-225660101	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564749261	chr1:225660102-225660103	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs144434885	chr1:225660105-225660106	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557255733	chr1:225660113-225660114	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs372800889	chr1:225660149-225660150	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225649800-225662600	Weak transcription	Pancreas	Pancrea
2	chr1:225651400-225662400	Weak transcription	Fetal Brain Male	brain
3	chr1:225653600-225662400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:225653600-225662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225653800-225659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:225655400-225662400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
8	chr1:225655800-225661200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:225655800-225661800	Weak transcription	Spleen	Spleen
10	chr1:225655800-225662000	Weak transcription	Right Ventricle	heart
11	chr1:225656200-225659800	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:225656400-225660000	Enhancers	Fetal Thymus	thymus
13	chr1:225656400-225662400	Weak transcription	Liver	Liver
14	chr1:225656400-225662600	Weak transcription	Thymus	Thymus
15	chr1:225656600-225661800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:225656600-225662000	Weak transcription	Lung	lung
17	chr1:225656600-225662600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:225656800-225661000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:225656800-225662400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:225656800-225662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:225656800-225663000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:225657000-225661200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:225657000-225662000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:225657000-225662400	Weak transcription	Primary B cells from cord blood	blood
25	chr1:225657000-225662400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:225657200-225660800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:225657200-225660800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:225657200-225661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:225657200-225661000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:225657200-225661200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:225657200-225662400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:225657400-225660800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:225657400-225660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:225657400-225660800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:225657400-225662000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:225657600-225662400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:225658400-225659600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:225658600-225660000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:225658800-225662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:225659000-225660800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:225659000-225661800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:225659200-225659400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:225659600-225659800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:225659600-225659800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr1:225659600-225660000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:225659600-225660200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:225659600-225662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:225659800-225661000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:225660000-225661000	Weak transcription	Fetal Thymus	thymus
50	chr1:225660000-225662000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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